Achondroplasia: Development, pathogenesis, and therapy
نویسندگان
چکیده
منابع مشابه
Achondroplasia: pathogenesis and implications for future treatment.
PURPOSE OF REVIEW Although the genetic defect underlying achondroplasia has been known for over a decade, no effective therapies to stimulate bone growth have emerged. Here we review the recent literature and summarize the molecular mechanisms underlying disease pathology and examine their potential as therapeutic targets. Currently used preclinical models are discussed in the context of recent...
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متن کاملAchondroplasia.
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many tissues, most strikingly the cartilaginous...
متن کاملAchondroplasia and Down's syndrome.
Down's syndrome in association with various other chromosomal disorders such as Klinefelter's, Turner's, trisomy 15, and triple X (Penrose and Smith, 1966), are well known. Other combinations of Down's syndrome with various metabolic disorders (e.g. hypothyroidism and diabetes mellitus (Daniels and Simon, 1968)) have also been reported. An unusual patient was recently seen at Columbus Children'...
متن کاملDevelopment of genu varum in achondroplasia: relation to fibular overgrowth.
Genu varum in the achondroplastic patient has a complex and multifactorial aetiology. There is little mention in the literature of the role of fibular overgrowth. Using the ratio of fibular to tibial length as a measurement of possible fibular overgrowth, we have related it to the development of genu varum. Full-length standing anteroposterior radiographs of 53 patients with achondroplasia were...
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ژورنال
عنوان ژورنال: Developmental Dynamics
سال: 2017
ISSN: 1058-8388
DOI: 10.1002/dvdy.24479